Fetal hydrops
Gene: LBRComment when marking as ready: Rated as green, and mode of inheritance complete.Created: 19 Dec 2016, 11:41 a.m.
Comment on list classification: Updated rating from Red to Green: One green expert review. Plus >3 cases of LBR mutations in Greenberg dysplasia (OMIM:215140) in OMIM, which presents with Fetal hydrops. Plus confirmed DD gene for OMIM:215140.Created: 19 Dec 2016, 11:41 a.m.
Comment on publications: Not included PMID:1118024 in the list, because this doesn't point to a related publication and may be a typo. PMID:3377005, PMID:12210303 and PMID:8213919 demonstrate a phenotype of Fetal hydrops in skeletal dysplasia.Created: 16 Dec 2016, 11:52 a.m.
PMID:12618959 (Waterham et al., 2003) described a fetus, the product of a consanguineous Turkish marriage, with severe hydrops and a diagnosis of Greenberg dysplasia (OMIM:215140). Sequence analysis of the LBR gene identified a homozygous 7-bp substitution at nucleotide 1599 in exon 13, TCTTCTA-CTAGAAG, which resulted in a truncated protein.Created: 16 Dec 2016, 11:46 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.Created: 16 Dec 2016, 11:38 a.m.
LBR is included in the gene panel for Fetal hydrops because mutations in LBR cause Greenberg dysplasia (GRBGD), which is characterized by a range of phenotypes including gross fetal hydrops.Created: 10 Oct 2016, 9:53 a.m.
21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for LBR were set to 3377005; 12210303; 8213919
Mode of inheritance for LBR was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for LBR were set to Greenberg skeletal dysplasia, 215140; hydrops-ectopic calcification-moth-eaten skeletal dysplasia
LBR was added to Fetal hydropspanel. Sources: Other
LBR was created by rfoulger